L7V (p.Leu7Val) variant of HNF4A (P41235)
L7V (p.Leu7Val) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- rs775770184
- gnomAD 20-44355826-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 17.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available